rs397514486
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAGA;AAGA) | 0 | common in clinvar |
Make rs397514486(-;-) |
Make rs397514486(-;AAGA) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 66455423 |
Gene | GRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs397514486 |
dbSNP (classic) | rs397514486 |
ClinGen | rs397514486 |
ebi | rs397514486 |
HLI | rs397514486 |
Exac | rs397514486 |
Gnomad | rs397514486 |
Varsome | rs397514486 |
LitVar | rs397514486 |
Map | rs397514486 |
PheGenI | rs397514486 |
Biobank | rs397514486 |
1000 genomes | rs397514486 |
hgdp | rs397514486 |
ensembl | rs397514486 |
geneview | rs397514486 |
scholar | rs397514486 |
rs397514486 | |
pharmgkb | rs397514486 |
gwascentral | rs397514486 |
openSNP | rs397514486 |
23andMe | rs397514486 |
SNPshot | rs397514486 |
SNPdbe | rs397514486 |
MSV3d | rs397514486 |
GWAS Ctlg | rs397514486 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514486(-;-) |
Alt | rs397514486(-;-) |
Reference | Rs397514486(AAGA;AAGA) |
Significance | Pathogenic |
Disease | Cryptophthalmos syndrome |
Variation | info |
Gene | GRIP1 |
CLNDBN | Cryptophthalmos syndrome |
Reversed | 1 |
HGVS | NC_000012.11:g.66849203_66849206delTCTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030649.2, |